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GCNT4 glucosaminyl (N-acetyl) transferase 4 [ Homo sapiens (human) ]

Gene ID: 51301, updated on 17-Mar-2024

Summary

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Official Symbol
GCNT4provided by HGNC
Official Full Name
glucosaminyl (N-acetyl) transferase 4provided by HGNC
Primary source
HGNC:HGNC:17973
See related
Ensembl:ENSG00000176928 MIM:616782; AllianceGenome:HGNC:17973
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C2GNT3; LINC01336
Summary
Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in O-glycan processing and carbohydrate metabolic process. Predicted to act upstream of or within several processes, including inter-male aggressive behavior; kidney morphogenesis; and thyroid hormone metabolic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

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Location:
5q13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75016969..75054060, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75497819..75535608, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74321171..74348383, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379040 Neighboring gene Sharpr-MPRA regulatory region 2499 Neighboring gene NANOG hESC enhancer GRCh37_chr5:74269438-74269939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22677 Neighboring gene ribosomal protein L27a pseudogene 5 Neighboring gene NANOG hESC enhancer GRCh37_chr5:74302578-74303200 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:74332401-74333600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16100 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:74351485-74352075 Neighboring gene ankyrin repeat domain 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16101 Neighboring gene uncharacterized LOC124901006 Neighboring gene SUMO2 pseudogene 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Control of O-glycan branch formation. Molecular cloning and characterization of a novel thymus-associated core 2 beta1, 6-n-acetylglucosaminyltransferase. Schwientek T, et al. J Biol Chem, 2000 Apr 14. PMID 10753916
  2. Circ_0005758 impedes gastric cancer progression through miR-1229-3p/GCNT4 feedback loop. Li P, et al. Toxicol In Vitro, 2022 Dec. PMID 35970245
  3. MicroRNA MiR-130a-3p promotes gastric cancer by targeting Glucosaminyl N-acetyl transferase 4 (GCNT4) to regulate the TGF-β1/SMAD3 pathway. Hu W, et al. Bioengineered, 2021 Dec. PMID 34696660, Free PMC Article
  4. Identification and initial characterization of 5000 expressed sequenced tags (ESTs) each from adult human normal and osteoarthritic cartilage cDNA libraries. Kumar S, et al. Osteoarthritis Cartilage, 2001 Oct. PMID 11597177
  5. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Wu JH, et al. Circ Cardiovasc Genet, 2013 Apr. PMID 23362303, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircPRDM5 inhibits the proliferation, migration, invasion, and glucose metabolism of gastric cancer cells by reducing GCNT4 expression in a miR-485-3p-dependent manner.
    Title: CircPRDM5 inhibits the proliferation, migration, invasion, and glucose metabolism of gastric cancer cells by reducing GCNT4 expression in a miR-485-3p-dependent manner.
  2. Circ_0005758 impedes gastric cancer progression through miR-1229-3p/GCNT4 feedback loop.
    Title: Circ_0005758 impedes gastric cancer progression through miR-1229-3p/GCNT4 feedback loop.
  3. MicroRNA MiR-130a-3p promotes gastric cancer by targeting Glucosaminyl N-acetyl transferase 4 (GCNT4) to regulate the TGF-beta1/SMAD3 pathway.
    Title: MicroRNA MiR-130a-3p promotes gastric cancer by targeting Glucosaminyl N-acetyl transferase 4 (GCNT4) to regulate the TGF-β1/SMAD3 pathway.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity TAS
Traceable Author Statement
more info
 PubMed 
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in O-glycan processing TAS
Traceable Author Statement
more info
  
involved_in carbohydrate metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in inter-male aggressive behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in kidney morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in neutrophil homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in protein O-linked glycosylation TAS
Traceable Author Statement
more info
 PubMed 
involved_in thyroid hormone metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4
Names
core 2 beta-1,6-N-acetylglucosaminyltransferase 3
core 2-branching enzyme 3
core2-GlcNAc-transferase 3
glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)
long intergenic non-protein coding RNA 1336
NP_001353666.1
XP_047273227.1
XP_047273228.1
XP_047273229.1
XP_047273230.1
XP_047273231.1
XP_047273232.1
XP_047273233.1
XP_047273234.1
XP_047273235.1
XP_047273236.1
XP_047273237.1
XP_054208725.1
XP_054208726.1
XP_054208727.1
XP_054208728.1
XP_054208729.1
XP_054208730.1
XP_054208731.1
XP_054208732.1
XP_054208733.1
XP_054208734.1
XP_054208735.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001366737.1 → NP_001353666.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4

    Status: VALIDATED

    Source sequence(s)
    AC093259
    Consensus CDS
    CCDS4026.1
    UniProtKB/Swiss-Prot
    Q9P109
    Related
    ENSP00000498836.1, ENST00000652361.2
    Conserved Domains (1) summary
    cl27418
    Location:133 → 402
    Branch; Core-2/I-Branching enzyme

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    75016969..75054060 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417280.1 → XP_047273236.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109
    Related
    ENSP00000317027.4, ENST00000322348.5

  2. XM_047417272.1 → XP_047273228.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  3. XM_047417276.1 → XP_047273232.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  4. XM_047417274.1 → XP_047273230.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  5. XM_047417278.1 → XP_047273234.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  6. XM_047417273.1 → XP_047273229.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  7. XM_047417275.1 → XP_047273231.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  8. XM_047417281.1 → XP_047273237.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  9. XM_047417271.1 → XP_047273227.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  10. XM_047417279.1 → XP_047273235.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  11. XM_047417277.1 → XP_047273233.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

RNA

  1. XR_007058605.1 RNA Sequence

  2. XR_007058606.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    75497819..75535608 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352759.1 → XP_054208734.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  2. XM_054352751.1 → XP_054208726.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  3. XM_054352755.1 → XP_054208730.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  4. XM_054352753.1 → XP_054208728.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  5. XM_054352757.1 → XP_054208732.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  6. XM_054352752.1 → XP_054208727.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  7. XM_054352754.1 → XP_054208729.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  8. XM_054352760.1 → XP_054208735.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  9. XM_054352750.1 → XP_054208725.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  10. XM_054352758.1 → XP_054208733.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

  11. XM_054352756.1 → XP_054208731.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9P109

RNA

  1. XR_008487122.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016591.2: Suppressed sequence

    Description
    NM_016591.2: This RefSeq was removed because currently there is insufficient support for the transcript.

  2. NR_126375.1: Suppressed sequence

    Description
    NR_126375.1: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P109.1 GenPept UniProtKB/Swiss-Prot:Q9P109

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